ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.700-7C>T

dbSNP: rs1588380391
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002536849 SCV001028198 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-08-22 criteria provided, single submitter clinical testing

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